Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.
Autorzy:
Nazarenko MS; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences, 634050 Tomsk, Russia.; Department of Medical Genetics, Siberian State Medical University, 634050 Tomsk, Russia. Viakhireva IV; Research Centre for Medical Genetics, 115522 Moscow, Russia. SkoblovMY; Research Centre for Medical Genetics, 115522 Moscow, Russia. Soloveva EV; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences, 634050 Tomsk, Russia. Sleptcov AA; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences, 634050 Tomsk, Russia. Nazarenko LP; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences, 634050 Tomsk, Russia.; Department of Medical Genetics, Siberian State Medical University, 634050 Tomsk, Russia.
FSHD1 Diagnosis in a Russian Population Using a qPCR-Based Approach.
Autorzy:
Zernov NV; Research Centre for Medical Genetics, Laboratory of Functional Genomics, 1, Moskvorechie Str., 115478 Moscow, Russia. Guskova AA; Research Centre for Medical Genetics, Laboratory of Functional Genomics, 1, Moskvorechie Str., 115478 Moscow, Russia. SkoblovMY; Research Centre for Medical Genetics, Laboratory of Functional Genomics, 1, Moskvorechie Str., 115478 Moscow, Russia.
Analysis of candidate genes expected to be essential for melanoma surviving.
Autorzy:
Krivosheeva IA; Laboratory of Functional Genomics, Research Centre of Medical Genetics, Erevanskaya Street, 10 building 2, Floor 44, Moscow, 115304 Russia. Filatova AY; Laboratory of Functional Genomics, Research Centre of Medical Genetics, Erevanskaya Street, 10 building 2, Floor 44, Moscow, 115304 Russia. Moshkovskii SA; Laboratory of Medical Proteomics, Institute of Biomedical Chemistry, Moscow, Russia. Baranova AV; School of Systems Biology, George Mason University, Fairfax, VA USA.; Laboratory of Functional Genomics, Research Centre of Medical Genetics, Erevanskaya Street, 10 building 2, Floor 44, Moscow, 115304 Russia. SkoblovMY; Laboratory of Functional Genomics, Research Centre of Medical Genetics, Erevanskaya Street, 10 building 2, Floor 44, Moscow, 115304 Russia.
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Źródło:
Cancer cell international [Cancer Cell Int] 2020 Oct 07; Vol. 20, pp. 488. Date of Electronic Publication: 2020 Oct 07 (Print Publication: 2020).
Genome scale analysis of pathogenic variants targetable for single base editing.
Autorzy:
Lavrov AV; Research Center for Medical Genetics, Moscow, Russia. . Varenikov GG; Moscow Institute of Physics and Technology, Dolgoprudny, Russia. SkoblovMY; Research Center for Medical Genetics, Moscow, Russia.; Moscow Institute of Physics and Technology, Dolgoprudny, Russia.; School of Biomedicine, Far Eastern Federal University, Vladivostok, Russia.
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Źródło:
BMC medical genomics [BMC Med Genomics] 2020 Sep 18; Vol. 13 (Suppl 8), pp. 80. Date of Electronic Publication: 2020 Sep 18.
LINC01420 RNA structure and influence on cell physiology.
Autorzy:
Konina DO; Department of Biological and Medical Physics, Moscow Institute of Physics and Technology (State University), Dolgoprudny, 141701, Russian Federation. Filatova AY; Research Centre for Medical Genetics, Moscow, Russian Federation, 115522. . SkoblovMY; Research Centre for Medical Genetics, Moscow, Russian Federation, 115522.; Far Eastern Federal University, Vladivostok, 690090, Russian Federation.
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Źródło:
BMC genomics [BMC Genomics] 2019 May 08; Vol. 20 (Suppl 3), pp. 298. Date of Electronic Publication: 2019 May 08.
Medical genetics studies at BGRS conference series.
Autorzy:
Baranova AV; School of Systems Biology, George Mason University, Fairfax, VA, USA.; Research Centre for Medical Genetics, 115478, Moscow, Russia. SkoblovMY; Research Centre for Medical Genetics, 115478, Moscow, Russia. Voropaeva EN; Research Institute of Internal and Preventive Medicine - Branch of the Institute of Cytology and Genetics SB RAS, 630090, Novosibirsk, Russia. Shanmughavel P; Bharathiar University, Coimbatore, Tamilnadu, 641046, India. Orlov YL; Research Institute of Internal and Preventive Medicine - Branch of the Institute of Cytology and Genetics SB RAS, 630090, Novosibirsk, Russia. .; Novosibirsk State University, 630090, Novosibirsk, Russia. .
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Źródło:
BMC medical genetics [BMC Med Genet] 2019 Apr 09; Vol. 20 (Suppl 1), pp. 50. Date of Electronic Publication: 2019 Apr 09.
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